Single‐strand conformation polymorphism and heteroduplex analysis for gel‐based mutation detection

AJ Nataraj, I Olivos‐Glander… - …, 1999 - Wiley Online Library
Single‐strand conformation polymorphism (SSCP) and heteroduplex analysis (HA) are
popular electrophoretic methods for the identification of sequences. The principle reasons …

The rapid detection of unknown mutations in nucleic acids

M Grompe - Nature genetics, 1993 - nature.com
The task of identifying mutations in nucleic acid sequences is a vital component of research
in mammalian genetics. With the advent of the polymerase chain reaction, several useful …

[图书][B] Sperling pediatric endocrinology

MA Sperling - 2020 - books.google.com
An ideal resource for both pediatricians and endocrinologists, Sperling's Pediatric
Endocrinology, 5th Edition, brings you fully up to date with accelerating research; new …

A PET study of the neural systems of stuttering

PT Fox, RJ Ingham, JC Ingham, TB Hirsch, JH Downs… - Nature, 1996 - nature.com
THE cause of stuttering is unknown1. Failure to develop left-hemispheric dominance for
speech is a long-standing theory1 although others implicate the motor system more …

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

O Le Saux, Z Urban, C Tschuch, K Csiszar… - Nature …, 2000 - nature.com
Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by calcification of
elastic fibres in skin, arteries and retina that results in dermal lesions with associated laxity …

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17

AH Carey, D Waterworth, K Patel… - Human molecular …, 1994 - academic.oup.com
Fourteen Caucasian families with 81 affected individuals have been assessed in which
polycystic ovaries/male pattern baldness (PCO/MPB) segregates as an autosomal dominant …

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

ME Elder, D Lin, J Clever, AC Chan, TJ Hope, A Weiss… - Science, 1994 - science.org
A homozygous mutation in the kinase domain of ZAP-70, a T cell receptor-associated
protein tyrosine kinase, produced a distinctive form of human severe combined …

[图书][B] Integration of modern taxonomic methods for Penicillium and Aspergillus classification

RA Samson, JI Pitt - 2003 - taylorfrancis.com
Many species of penicillium and aspergillus are important in biotechnology, food, medicine,
biodeterioration and other applied fields, so a practical and stable taxonomy is of vital …

The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.

EC Salido, PH Yen, K Koprivnikar, LC Yu… - American journal of …, 1992 - ncbi.nlm.nih.gov
Amelogenins, a family of extracellular matrix proteins of the dental enamel, are transiently
but abundantly expressed by ameloblasts during tooth development. Amelogenins seem to …

Trichromatic colour vision in New World monkeys

GH Jacobs, M Neitz, JF Deegan, J Neitz - Nature, 1996 - nature.com
TRICHROMATIC colour vision depends on the presence of three types of cone
photopigment. Trichromacy is the norm for all Old World monkeys, apes and humans, but in …